chr11:113283477:A>G Detail (hg19) (DRD2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:113,283,477-113,283,477 |
| hg38 | chr11:113,412,755-113,412,755 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000795.3:c.939T>C | NP_000786.1:p.His313= |
| NM_016574.3:c.852T>C | NP_057658.2:p.His284= | |
| Ensemble | ENST00000544518.5:c.936T>C | ENST00000544518.5:p.His312= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.441 |
| ToMMo:0.432 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.462 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
criteria provided, single submitter | not specified |
germline
|
Detail | |
|
Benign
|
2024-02-01 | criteria provided, single submitter | Dystonic disorder |
germline
|
Detail |
|
Benign
|
2018-07-23 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Benign
|
criteria provided, single submitter | schizophrenia |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.345 | schizophrenia | Our results demonstrated initial significant associations of two SNPs for DRD2 (... | BeFree | 19207030 | Detail |
| 0.054 | Migraine Disorders | By multivariate logistic stepwise regression analysis, type of migraine, regular... | BeFree | 22290307 | Detail |
| 0.015 | Migraine Disorders | By multivariate logistic stepwise regression analysis, type of migraine, regular... | BeFree | 22290307 | Detail |
| 0.291 | schizophrenia | The relationship between DRD2 gene polymorphisms (C957T and C939T) and schizophr... | BeFree | 25240594 | Detail |
| <0.001 | Headache | Gene polymorphisms including serotonin (5-HT)(1B) receptor G861C and dopamine re... | BeFree | 21822697 | Detail |
| <0.001 | Abnormal involuntary movement | DRD2 genotypes were not significantly associated with TD severity as measured by... | BeFree | 16959057 | Detail |
| 0.015 | Migraine Disorders | The multivariate stepwise logistic regression analysis revealed that age, perior... | BeFree | 21822697 | Detail |
| 0.001 | Headache | Gene polymorphisms including serotonin (5-HT)(1B) receptor G861C and dopamine re... | BeFree | 21822697 | Detail |
| 0.291 | schizophrenia | Multifactor-dimensionality reduction analysis suggested a two locus model (rs627... | BeFree | 19207030 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000795.4(DRD2):c.939T>C (p.His313=) AND not specified | ClinVar | Detail |
| NM_000795.4(DRD2):c.939T>C (p.His313=) AND Dystonic disorder | ClinVar | Detail |
| NM_000795.4(DRD2):c.939T>C (p.His313=) AND not provided | ClinVar | Detail |
| NM_000795.4(DRD2):c.939T>C (p.His313=) AND Schizophrenia | ClinVar | Detail |
| Our results demonstrated initial significant associations of two SNPs for DRD2 (rs11608185, genotype... | DisGeNET | Detail |
| By multivariate logistic stepwise regression analysis, type of migraine, regular and sufficient diet... | DisGeNET | Detail |
| By multivariate logistic stepwise regression analysis, type of migraine, regular and sufficient diet... | DisGeNET | Detail |
| The relationship between DRD2 gene polymorphisms (C957T and C939T) and schizophrenia: a meta-analysi... | DisGeNET | Detail |
| Gene polymorphisms including serotonin (5-HT)(1B) receptor G861C and dopamine receptor 2 (DRD2) C939... | DisGeNET | Detail |
| DRD2 genotypes were not significantly associated with TD severity as measured by AIMS (Abnormal Invo... | DisGeNET | Detail |
| The multivariate stepwise logistic regression analysis revealed that age, periorbital/deep orbital p... | DisGeNET | Detail |
| Gene polymorphisms including serotonin (5-HT)(1B) receptor G861C and dopamine receptor 2 (DRD2) C939... | DisGeNET | Detail |
| Multifactor-dimensionality reduction analysis suggested a two locus model (rs6275/DRD2 and rs4680/CO... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs6275 dbSNP
- Genome
- hg19
- Position
- chr11:113,283,477-113,283,477
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1204
- Mean of sample read depth (HGVD)
- 48.01
- Standard deviation of sample read depth (HGVD)
- 18.74
- Number of reference allele (HGVD)
- 1345
- Number of alternative allele (HGVD)
- 1063
- Allele Frequency (HGVD)
- 0.4414451827242525
- Gene Symbol (HGVD)
- DRD2
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs6275
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.432
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7239
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8616
- East Asian Allele Counts (ExAC)
- 3980
- East Asian Heterozygous Counts (ExAC)
- 2110
- East Asian Homozygous Counts (ExAC)
- 935
- East Asian Allele Frequency (ExAC)
- 0.4619312906220984
- Chromosome Counts in All Race (ExAC)
- 121314
- Allele Counts in All Race (ExAC)
- 77776
- Heterozygous Counts in All Race (ExAC)
- 26466
- Homozygous Counts in All Race (ExAC)
- 25655
- Allele Frequency in All Race (ExAC)
- 0.64111314440213
Genome browser